Variant report

Variant	rs7225537
Chromosome Location	chr17:16912680-16912681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12941341	0.82[EUR][1000 genomes]
rs55793054	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv962271	chr17:16912264-16922846	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7225537	COPS3	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16903200-16921000	Weak transcription	Lung	lung
2	chr17:16905800-16920000	Weak transcription	Fetal Intestine Large	intestine
3	chr17:16906800-16923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:16909000-16914400	Weak transcription	Fetal Lung	lung
5	chr17:16910800-16913200	Enhancers	A549	lung
6	chr17:16911600-16913800	Enhancers	Hela-S3	cervix
7	chr17:16911800-16912800	Enhancers	NHEK	skin
8	chr17:16911800-16913000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:16911800-16913400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:16911800-16913400	Enhancers	Stomach Mucosa	stomach
11	chr17:16912200-16913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:16912200-16913400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr17:16912200-16913600	Enhancers	Placenta	Placenta
14	chr17:16912200-16913800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:16912200-16913800	Enhancers	HMEC	breast
16	chr17:16912400-16912800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr17:16912400-16913400	Enhancers	NHDF-Ad	bronchial
18	chr17:16912400-16913600	Enhancers	Pancreas	Pancrea
19	chr17:16912600-16912800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:16912600-16913000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:16912600-16913200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:16912600-16913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:16912600-16913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:16912600-16913400	Enhancers	HSMMtube	muscle
25	chr17:16912600-16913400	Enhancers	NHLF	lung
26	chr17:16912600-16913400	Enhancers	Osteobl	bone
27	chr17:16912600-16913600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:16912600-16914800	Enhancers	Liver	Liver

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